ClinVar Miner

List of variants in gene combination KANSL1, MAPT reported as benign for Koolen-de Vries syndrome

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Total variants: 4
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HGVS dbSNP
NM_001193466.2(KANSL1):c.2742C>T (p.Asp914=) rs35833914
NM_001193466.2(KANSL1):c.2751C>T (p.Phe917=) rs36076725
NM_001193466.2(KANSL1):c.3029C>T (p.Pro1010Leu) rs7220988
NM_001193466.2(KANSL1):c.3254T>C (p.Ile1085Thr) rs34579536

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